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Molecular diagnosis of Methylmalonic Aciduria with Homocystinuria type cblJ (ABCD4 gene)

  • Phone : +31(0)20 444 2880
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Last update: May 2015

Responsible of diagnostic test


Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Targeted mutation analysis
Sanger sequencing
Mutation scanning/screening and sequence analysis of selected exons
Sanger sequencing
Sequence analysis: entire coding region
Sanger sequencing

List of diseases and genes

List of genes tested (including panels) (1)
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